采用毛细管电泳法进行血红蛋白病的新生儿筛查。

Newborn screening for hemoglobinopathies using capillary electrophoresis.

作者信息

Giordano P C

机构信息

Human and Clinical Genetics Department, Leiden University Medical Center, Leiden, The Netherlands.

出版信息

Methods Mol Biol. 2013;919:131-45. doi: 10.1007/978-1-62703-029-8_13.

DOI:10.1007/978-1-62703-029-8_13

PMID:22976097

Abstract

This chapter reports the essential elements needed to understand basic laboratory diagnostics consisting of separation and measurement of the hemoglobin fractions. Although well established, basic diagnostics require some background and some degree of experience for application and interpretation. Last generation methods, consisting of automatic systems like high performance liquid chromatography and capillary electrophoresis (CE), allow high through put analysis in adults and newborns. Newborn screening using CE is presented in some details, using as an example the Capillarysâ Neonat Hb system (Sebia, France), as an upcoming alternative, explaining the method, the interpretation of the results, the objectives, the follow up, the advantages, and the pitfalls.

摘要

本章报告了理解基本实验室诊断所需的基本要素，这些诊断包括血红蛋白组分的分离和测量。尽管基本诊断方法已很成熟，但应用和解读仍需要一些背景知识和一定程度的经验。上一代方法，包括高效液相色谱和毛细管电泳（CE）等自动化系统，可对成人和新生儿进行高通量分析。本文将详细介绍使用CE进行新生儿筛查，以Capillarys Neonat Hb系统（法国赛比公司）为例，作为一种即将出现的替代方法，解释其方法、结果解读、目标、随访、优点和缺陷。